The effect of CACNA1H gene G773D mutation on calcium channel function.
- Author:
Ju-li WANG
1
;
Chong-yang HAN
;
Yu-hong JING
;
Yu-cai CHEN
;
Nan FENG
;
Jian-jun LU
;
Yue-hua ZHANG
;
Hong PAN
;
Hu-sheng WU
;
Ke-ming XU
;
Yu-wu JIANG
;
Jian-min LIANG
;
Ling WANG
;
Xiao-liang WANG
;
Yan SHEN
;
Xi-ru WU
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Calcium Channels, T-Type; genetics; physiology; Cell Line; Child; Child, Preschool; DNA Mutational Analysis; Epilepsy, Absence; genetics; pathology; physiopathology; Family Health; Female; Humans; Male; Molecular Sequence Data; Mutation; Patch-Clamp Techniques; Polymorphism, Single Nucleotide
- From: Chinese Journal of Medical Genetics 2006;23(4):369-373
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the effect of CACNA1H gene mutation G773D on calcium channel function.
METHODSBy the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant. And then using whole cell clamp technique, we studied the alterations of channel behavior in transfected HEK-293 cells.
RESULTSThere were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Cav3.2 channel, G773D mutant could increase the calcium current density significantly.
CONCLUSIONCACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.
